Canonical Allele Identifier: CA2576316735

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167778_50167779del , CM000679.2:g.50167778_50167779del	GRCh38
NC_000017.10:g.48245139_48245140del , CM000679.1:g.48245139_48245140del	GRCh37
NC_000017.9:g.45600138_45600139del	NCBI36
NG_008889.1:g.6774_6775del , LRG_203:g.6774_6775del

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.312+42_312+43del	ENSP00000422030.2:n.312+42_312+43del
ENST00000511303.6:n.38-169_38-168del
ENST00000512526.2:c.303+51_303+52del	ENSP00000426606.2:n.303+51_303+52del
ENST00000682109.1:c.192+42_192+43del	ENSP00000508041.1:n.192+42_192+43del
ENST00000683226.1:n.22+42_22+43del
ENST00000683294.1:c.312+42_312+43del	ENSP00000508134.1:n.312+42_312+43del
ENST00000262018.8:c.312+42_312+43del MANE Select	ENSP00000262018.3:n.312+42_312+43del
ENST00000262018.7:c.312+42_312+43del	ENSP00000262018.3:n.312+42_312+43del
ENST00000344627.10:c.312+42_312+43del	ENSP00000345522.6:n.312+42_312+43del
ENST00000502555.5:c.158-169_158-168del	ENSP00000422817.1:n.158-169_158-168del
ENST00000511303.5:c.34-169_34-168del	ENSP00000426104.1:n.34-169_34-168del
ENST00000512526.1:c.147+51_147+52del
ENST00000513821.5:c.312+42_312+43del	ENSP00000426571.1:n.312+42_312+43del
ENST00000513942.5:n.104-169_104-168del
ENST00000514934.1:c.*19-169_*19-168del	ENSP00000423168.1:n.*19-169_*19-168del
NM_000023.2:c.312+42_312+43del , LRG_203t1:c.312+42_312+43del	NP_000014.1:n.312+42_312+43del
NM_001135697.1:c.312+42_312+43del	NP_001129169.1:n.312+42_312+43del
XM_011525120.1:c.312+42_312+43del	XP_011523422.1:n.312+42_312+43del
XM_011525121.1:c.312+42_312+43del	XP_011523423.1:n.312+42_312+43del
XM_011525122.1:c.312+42_312+43del	XP_011523424.1:n.312+42_312+43del
XM_011525123.1:c.312+42_312+43del	XP_011523425.1:n.312+42_312+43del
XM_011525124.1:c.7-169_7-168del	XP_011523426.1:n.7-169_7-168del
XR_934517.1:n.378+42_378+43del
NM_000023.3:c.312+42_312+43del	NP_000014.1:n.312+42_312+43del
NM_001135697.2:c.312+42_312+43del	NP_001129169.1:n.312+42_312+43del
NR_135553.1:n.368+42_368+43del
XM_011525120.2:c.474+42_474+43del	XP_011523422.2:n.474+42_474+43del
XM_011525121.2:c.474+42_474+43del	XP_011523423.2:n.474+42_474+43del
XM_011525122.2:c.474+42_474+43del	XP_011523424.2:n.474+42_474+43del
XM_011525123.2:c.474+42_474+43del	XP_011523425.2:n.474+42_474+43del
XM_011525124.2:c.7-169_7-168del	XP_011523426.1:n.7-169_7-168del
XM_024450873.1:c.7-169_7-168del	XP_024306641.1:n.7-169_7-168del
XR_002958056.1:n.830+42_830+43del
NM_000023.4:c.312+42_312+43del MANE Select	NP_000014.1:n.312+42_312+43del
NM_001135697.3:c.312+42_312+43del	NP_001129169.1:n.312+42_312+43del
NR_135553.2:n.348+42_348+43del